Heteromorphic variants of chromosome 9
نویسندگان
چکیده
منابع مشابه
Goldenhar Syndrome and Pericentric Inversion of Chromosome 9
Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
متن کاملExclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.
Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive disorder belonging to the group of acromesomelic dysplasias. AMDM is characterised by severe dwarfism with shortening of the middle and distal segments of the limbs. An AMDM gene has recently been mapped to human chromosome 9p13-q12 by homozygosity mapping in four consanguineous families. Here, we show linkage of the diseas...
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Two Common Gene Variants on Chromosome 9 and Risk of Atherothrombosis To the Editor: McPherson et al recently reported (in the journal Science) the association of 2 single nucleotide polymorphisms (rs10757274 and rs2383206) with coronary heart disease (CHD).1 After their report, we examined the possible association of these 2 gene variants with atherothrombotic events using a prospective, neste...
متن کاملgoldenhar syndrome and pericentric inversion of chromosome 9
oculo-auriculovertebral dysplasia (goldenhar) is a congenital syndrome. its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. this syndrome is rare and its etiology is not apparent yet. pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. herein we present ...
متن کاملChapter 9: Distinct distances variants
Let subset(n) = min|P|=n subset(P). In other words, subset(n) is the maximum number satisfying the property that every set of n points in the plane contains a subset of subset(n) points that do not span any distance more than once. We are interested in the asymptotic value of subset(n). Let P be a point set that spans d distinct distances. Notice that if all of the distances that are spanned by...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2013
ISSN: 1755-8166
DOI: 10.1186/1755-8166-6-14